{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1324593",
  "communityStandardTitle": [
    "NM_001005337.3(PKP1):c.1742G>A (p.Arg581His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=863282[alleleid]",
        "alleleId": 863282,
        "preferredName": "NM_001005337.3(PKP1):c.1742G>A (p.Arg581His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/875971",
        "RCV": [
          "RCV001100300",
          "RCV002554963",
          "RCV004032063"
        ],
        "variationId": 875971
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-201293617-G-A",
        "id": "1-201293617-G-A",
        "variant": "1:201293617 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.201293617G>A?assembly=hg19",
        "id": "chr1:g.201293617G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.201324489G>A?assembly=hg38",
        "id": "chr1:g.201324489G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/142096411",
        "rs": 142096411
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-201293617-G-A?dataset=gnomad_r2_1",
        "id": "1-201293617-G-A",
        "variant": "1:201293617 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-201324489-G-A?dataset=gnomad_r3",
        "id": "1-201324489-G-A",
        "variant": "1:201324489 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-201324489-G-A?dataset=gnomad_r4",
        "id": "1-201324489-G-A",
        "variant": "1:201324489 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 201324489,
          "referenceAllele": "G",
          "start": 201324488
        }
      ],
      "hgvs": [
        "NC_000001.11:g.201324489G>A",
        "CM000663.2:g.201324489G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 201293617,
          "referenceAllele": "G",
          "start": 201293616
        }
      ],
      "hgvs": [
        "NC_000001.10:g.201293617G>A",
        "CM000663.1:g.201293617G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 199560240,
          "referenceAllele": "G",
          "start": 199560239
        }
      ],
      "hgvs": [
        "NC_000001.9:g.199560240G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 46038,
          "referenceAllele": "G",
          "start": 46037
        }
      ],
      "hgvs": [
        "NG_023337.1:g.46038G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003806"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1939,
          "referenceAllele": "G",
          "start": 1938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009023",
      "geneNCBI_id": 5317,
      "geneSymbol": "PKP1",
      "hgvs": [
        "ENST00000367324.8:c.1742G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356293.4:p.Arg581His",
        "hgvsWellDefined": "ENSP00000356293.4:p.Arg581His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749983",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367324.8:c.1742G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001005337.3:c.1742G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356293.4:p.Arg581His"
          },
          "RefSeq": {
            "hgvs": "NP_001005337.1:p.Arg581His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2056,
          "referenceAllele": "G",
          "start": 2055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009023",
      "geneNCBI_id": 5317,
      "geneSymbol": "PKP1",
      "hgvs": [
        "ENST00000263946.7:c.1805G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263946.3:p.Arg602His",
        "hgvsWellDefined": "ENSP00000263946.3:p.Arg602His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251376"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1805,
          "referenceAllele": "G",
          "start": 1804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009023",
      "geneNCBI_id": 5317,
      "geneSymbol": "PKP1",
      "hgvs": [
        "ENST00000352845.3:c.1805G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295597.3:p.Arg602His",
        "hgvsWellDefined": "ENSP00000295597.3:p.Arg602His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262903"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1993,
          "referenceAllele": "G",
          "start": 1992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009023",
      "geneNCBI_id": 5317,
      "geneSymbol": "PKP1",
      "hgvs": [
        "ENST00000367324.7:c.1742G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356293.3:p.Arg581His",
        "hgvsWellDefined": "ENSP00000356293.3:p.Arg581His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266327"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1930,
          "referenceAllele": "G",
          "start": 1929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009023",
      "geneNCBI_id": 5317,
      "geneSymbol": "PKP1",
      "hgvs": [
        "ENST00000622031.4:c.1739G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482213.1:p.Arg580His",
        "hgvsWellDefined": "ENSP00000482213.1:p.Arg580His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139668367",
      "coordinates": [
        {
          "allele": "A",
          "end": 2056,
          "referenceAllele": "G",
          "start": 2055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009023",
      "geneNCBI_id": 5317,
      "geneSymbol": "PKP1",
      "hgvs": [
        "NM_000299.3:c.1805G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000290.2:p.Arg602His",
        "hgvsWellDefined": "NP_000290.2:p.Arg602His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006360"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825263426",
      "coordinates": [
        {
          "allele": "A",
          "end": 1993,
          "referenceAllele": "G",
          "start": 1992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009023",
      "geneNCBI_id": 5317,
      "geneSymbol": "PKP1",
      "hgvs": [
        "NM_001005337.2:c.1742G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005337.1:p.Arg581His",
        "hgvsWellDefined": "NP_001005337.1:p.Arg581His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007684"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825263426",
      "coordinates": [
        {
          "allele": "A",
          "end": 1939,
          "referenceAllele": "G",
          "start": 1938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009023",
      "geneNCBI_id": 5317,
      "geneSymbol": "PKP1",
      "hgvs": [
        "NM_001005337.3:c.1742G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005337.1:p.Arg581His",
        "hgvsWellDefined": "NP_001005337.1:p.Arg581His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675184",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367324.8:c.1742G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001005337.3:c.1742G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356293.4:p.Arg581His"
          },
          "RefSeq": {
            "hgvs": "NP_001005337.1:p.Arg581His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139668367",
      "coordinates": [
        {
          "allele": "A",
          "end": 2002,
          "referenceAllele": "G",
          "start": 2001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009023",
      "geneNCBI_id": 5317,
      "geneSymbol": "PKP1",
      "hgvs": [
        "NM_000299.4:c.1805G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000290.2:p.Arg602His",
        "hgvsWellDefined": "NP_000290.2:p.Arg602His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710822"
    }
  ],
  "type": "nucleotide"
}